Canonical Allele Identifier: CA2814533755

Gene: APOE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909093_44909128dup , CM000681.2:g.44909093_44909128dup	GRCh38
NC_000019.9:g.45412350_45412385dup , CM000681.1:g.45412350_45412385dup	GRCh37
NC_000019.8:g.50104190_50104225dup	NCBI36
NG_007084.2:g.8312_8347dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.797_832dup MANE Select	ENSP00000252486.3:p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluA...
ENST00000252486.8:c.797_832dup	ENSP00000252486.3:p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluA...
NM_000041.3:c.797_832dup	NP_000032.1:p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaPheG...
NM_001302688.1:c.875_910dup	NP_001289617.1:p.Ala303_Arg304insGlnGlnIleArgLeuGlnAlaGluAlaP...
NM_001302689.1:c.797_832dup	NP_001289618.1:p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaP...
NM_001302690.1:c.797_832dup	NP_001289619.1:p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaP...
NM_001302691.1:c.797_832dup	NP_001289620.1:p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaP...
NM_000041.4:c.797_832dup MANE Select	NP_000032.1:p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaPheG...
NM_001302688.2:c.875_910dup	NP_001289617.1:p.Ala303_Arg304insGlnGlnIleArgLeuGlnAlaGluAlaP...
NM_001302689.2:c.797_832dup	NP_001289618.1:p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaP...
NM_001302691.2:c.797_832dup	NP_001289620.1:p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaP...
NM_001302690.2:c.797_832dup	NP_001289619.1:p.Ala277_Arg278insGlnGlnIleArgLeuGlnAlaGluAlaP...